loading...| Preferred Name |
Cowden Syndrome |
|
| Synonyms |
Cowden Disease multiple hamartoma syndrome Cowden disease Cowden syndrome Cowden Syndrome Cowden's Disease Ruvalcaba-Myhre-Smith Syndrome |
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| Definitions |
An autosomal dominant hereditary syndrome characterized by a variety of hamartomas and neoplasms including verrucous skin lesions, fibromas of the oral cavity, facial trichilemmomas, hamartomatous colonic polyps, thyroid neoplasms, breast cancer, and dysplastic gangliocytomas of the cerebellum. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3076 |
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| ALT_DEFINITION |
An inherited disorder marked by the formation of many noncancerous growths called hamartomas. These growths occur in the skin, breast, thyroid, colon, intestines, and inside of the mouth. Patients with Cowden syndrome are at increased risk of certain types of cancer, including breast and thyroid. |
|
| code |
C3076 |
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| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 |
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| Contributing_Source |
Cellosaurus CCPS CTRP GDC |
|
| DEFINITION |
An autosomal dominant hereditary syndrome characterized by a variety of hamartomas and neoplasms including verrucous skin lesions, fibromas of the oral cavity, facial trichilemmomas, hamartomatous colonic polyps, thyroid neoplasms, breast cancer, and dysplastic gangliocytomas of the cerebellum. |
|
| Display_Name |
Cowden Syndrome |
|
| FULL_SYN |
Cowden Disease multiple hamartoma syndrome Cowden disease Cowden syndrome Cowden Syndrome Cowden's Disease Ruvalcaba-Myhre-Smith Syndrome |
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| Is_Value_For_GDC_Property | ||
| label |
Cowden Syndrome |
|
| Legacy Concept Name |
Cowden_Syndrome |
|
| Maps_To |
Cowden Syndrome |
|
| Preferred_Name |
Cowden Syndrome |
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| prefixIRI |
Thesaurus:C3076 |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0018553 |
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| subClassOf |